HEXA Gene - CISMeF

Preferred Label : HEXA Gene;

NCIt synonyms : Hexosaminidase Subunit Alpha Gene;

NCIt related terms : HEXA;

NCIt definition : This gene is involved in the metabolism of anionic bis-sulfated glycans and GM2 gangliosides.;

Details

Origin ID

C201731;

UMLS CUI

C1415522;

HGNC gene
- hexosaminidase subunit alpha [HGNC gene]
OMIM relation
- Hexosaminidase a [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- HEXA gene [LOINC component]
- Hexosaminidase a [OMIM gene]
- hexosaminidase subunit alpha [HGNC gene]
gene_encodes_gene_product
- Beta-Hexosaminidase Subunit Alpha [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_mapped_to_disease
- Tay-Sachs Disease [NCIt concept]
gene_plays_role_in_process
- Biosynthetic Process [NCIt concept]
- Catabolic Process [NCIt concept]
- Hydrolysis [NCIt concept]
- Lipid Metabolic Process [NCIt concept]
genetic_biomarker_related_to
- Hexosaminidase A Measurement [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients